Friedreich's Ataxia is a hereditary neurological disease that affects the central nervous system and is characterized by the progressive degeneration of nervous and muscular tissues. It was discovered by the German doctor Nikolaus Friedreich in 1861 and since then it has been the subject of intense research to understand its causes, symptoms and possible treatments.
Symptoms of the Friedreich's Ataxia
Friedreich's Ataxia manifests itself in childhood or adolescence, between 5 and 15 years of age. Initial symptoms usually include difficulty walking, lack of motor coordination, muscle weakness, and dysarthria (difficulty articulating words). As the disease progresses, other symptoms may occur such as loss of sensation in the extremities, scoliosis, heart problems and diabetes.
One of the characteristic features of Friedreich's Ataxia is ataxia, which is refers to the lack of muscle control and coordination of movements. Patients with this disease may experience tremors, uncoordinated movements, and difficulty performing everyday tasks that require precision, such as writing or eating.
Causes of Friedreich's Ataxia
Friedreich's Ataxia It is caused by a mutation in the FXN gene, which encodes a protein called frataxin. This protein plays a crucial role in iron metabolism and energy production in cells. The mutation in the FXN gene leads to a deficiency of frataxin, resulting in the accumulation of iron in the mitochondria and damage to nerve and muscle tissues.
Friedreich's Ataxia is inherited autosomally recessive, meaning that both parents must be carriers of the mutated gene for a child to inherit the disease. Individuals affected by Friedreich's Ataxia have two defective copies of the FXN gene, one inherited from each parent.
Treatment of Friedreich's Ataxia
To date, there is no cure. definitive for Friedreich's Ataxia. Treatment of the disease focuses on relieving symptoms and improving patients' quality of life. Therapeutic approaches may include physical therapy, occupational therapy, speech therapy, and genetic counseling.
In addition, research is underway to develop therapies aimed at counteracting the effects of the mutation in the FXN gene and increasing levels of frataxin in affected cells. Currently, clinical trials are testing the effectiveness of molecules that could potentially stop or slow the progression of the disease.
It is essential that patients with Friedreich's Ataxia receive regular medical follow-up and multidisciplinary treatment. to address the different aspects of your condition. Comprehensive care from a specialized team can help improve quality of life and provide emotional and social support to patients and their families.
Conclusion
Friedreich's Ataxia is a hereditary neurodegenerative disease that affects children and adolescents, causing motor coordination problems, muscle weakness and other symptoms that significantly impact the quality of life of patients. Despite not having a curative treatment, scientific research continues to advance in the search for therapies that can help slow the progression of the disease and provide relief to those who suffer from it.
We hope that this article has been helpful. contributed to increasing the understanding of Friedreich's Ataxia, its symptoms, causes and treatment options, and to serve as an information resource for those seeking to learn more about this rare neurodegenerative disease.